A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6668674



Internal ID9737274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:11534532..11549519hg38UCSC Ensembl
OuterchrY:13690208..13705195hg19UCSC Ensembl
CytobandYq11.21
Allele length
AssemblyAllele length
hg3814988
hg1914988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740648, esv2740650, esv2740644, esv2740646
Supporting Variants
SamplesSSM030
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6668674
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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